Works matching AU Mayr, Johannes A.

Results: 131
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    Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 3, p. 1, doi. 10.1002/jimd.70035
    By:
    • Hammann, Nicole;
    • Staufner, Christian;
    • Schlieben, Lea Dewi;
    • Dezsőfi‐Gottl, Antal;
    • Feichtinger, René G.;
    • Häberle, Johannes;
    • Junge, Norman;
    • Konstantopoulou, Vassiliki;
    • Kopajtich, Robert;
    • McLin, Valérie;
    • Rymen, Daisy;
    • Slavetinsky, Christoph;
    • Sturm, Ekkehard;
    • Mayr, Johannes A.;
    • Wagner, Matias;
    • Kölker, Stefan;
    • Prokisch, Holger;
    • Hoffmann, Georg F.;
    • Lenz, Dominic
    Publication type:
    Article
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    Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.

    Published in:
    Human Mutation, 2017, v. 38, n. 12, p. 1786, doi. 10.1002/humu.23340
    By:
    • Wortmann, Saskia B.;
    • Timal, Sharita;
    • Venselaar, Hanka;
    • Wintjes, Liesbeth T.;
    • Kopajtich, Robert;
    • Feichtinger, René G.;
    • Onnekink, Carla;
    • Mühlmeister, Mareike;
    • Brandt, Ulrich;
    • Smeitink, Jan A.;
    • Veltman, Joris A.;
    • Sperl, Wolfgang;
    • Lefeber, Dirk;
    • Pruijn, Ger;
    • Stojanovic, Vesna;
    • Freisinger, Peter;
    • v Spronsen, Francjan;
    • Derks, Terry GJ;
    • Veenstra-Knol, Hermine E.;
    • Mayr, Johannes A
    Publication type:
    Article
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    WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.

    Published in:
    Human Mutation, 2015, v. 36, n. 11, p. 1021, doi. 10.1002/humu.22828
    By:
    • Vodopiutz, Julia;
    • Seidl, Rainer;
    • Prayer, Daniela;
    • Khan, M. Imran;
    • Mayr, Johannes A.;
    • Streubel, Berthold;
    • Steiß, Jens‐Oliver;
    • Hahn, Andreas;
    • Csaicsich, Dagmar;
    • Castro, Christel;
    • Assoum, Mirna;
    • Müller, Thomas;
    • Wieczorek, Dagmar;
    • Mancini, Grazia M. S.;
    • Sadowski, Carolin E.;
    • Lévy, Nicolas;
    • Mégarbané, André;
    • Godbole, Koumudi;
    • Schanze, Denny;
    • Hildebrandt, Friedhelm
    Publication type:
    Article
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    Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 10, p. 991, doi. 10.3390/jcm8070991
    By:
    • Bugiardini, Enrico;
    • Pope, Simon;
    • Feichtinger, René G.;
    • Poole, Olivia V.;
    • Pittman, Alan M.;
    • Woodward, Cathy E.;
    • Heales, Simon;
    • Quinlivan, Rosaline;
    • Houlden, Henry;
    • Mayr, Johannes A.;
    • Hanna, Michael G.;
    • Pitceathly, Robert D.S.
    Publication type:
    Article
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    Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 7, p. 991, doi. 10.3390/jcm8070991
    By:
    • Bugiardini, Enrico;
    • Pope, Simon;
    • Feichtinger, René G.;
    • Poole, Olivia V.;
    • Pittman, Alan M.;
    • Woodward, Cathy E.;
    • Heales, Simon;
    • Quinlivan, Rosaline;
    • Houlden, Henry;
    • Mayr, Johannes A.;
    • Hanna, Michael G.;
    • Pitceathly, Robert D.S.
    Publication type:
    Article
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    Causes and consequences of pedestrian injuries in children.

    Published in:
    European Journal of Pediatrics, 2003, v. 162, n. 3, p. 184, doi. 10.1007/s00431-002-1099-1
    By:
    • Mayr, Johannes M.;
    • Eder, Christian;
    • Berghold, Andrea;
    • Wernig, Johannes;
    • Khayati, Souhail;
    • Ruppert-Kohlmayr, Andrea
    Publication type:
    Article
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    TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.

    Published in:
    Nature Genetics, 2008, v. 40, n. 11, p. 1288, doi. 10.1038/ng.246
    By:
    • Čížková, Alena;
    • Stránecký, Viktor;
    • Mayr, Johannes A;
    • Tesařová, Markéta;
    • Havlíčková, Vendula;
    • Paul, Jan;
    • Ivánek, Robert;
    • Kuss, Andreas W;
    • Hansíková, Hana;
    • Kaplanová, Vilma;
    • Vrbacký, Marek;
    • Hartmannová, Hana;
    • Nosková, Lenka;
    • Honzík, Tomáš;
    • Drahota, Zdeněk;
    • Magner, Martin;
    • Hejzlarová, Kateřina;
    • Sperl, Wolfgang;
    • Zeman, Jiří;
    • Houštěk, Josef
    Publication type:
    Article
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    Mitochondrial Oxidative Phosphorylation Alterations in Placental Tissues from Early- and Late-Onset Preeclampsia.

    Published in:
    International Journal of Molecular Sciences, 2025, v. 26, n. 9, p. 3951, doi. 10.3390/ijms26093951
    By:
    • Lehenauer, Theresa;
    • Jaksch-Bogensperger, Heidi;
    • Huber, Sara;
    • Weghuber, Daniel;
    • Fischer, Thorsten;
    • Mayr, Johannes A.;
    • Kofler, Barbara;
    • Neumayer, Bettina;
    • Gharehbaghi, Daniel;
    • Duggan-Peer, Michaela;
    • Brandstetter, Maximilian;
    • Fazelnia, Claudius;
    • Feichtinger, René G.
    Publication type:
    Article
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    Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F<sub>1</sub>F<sub>o</sub> ATP synthase deficiency.

    Published in:
    BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-38
    By:
    • Čížková, Alena;
    • Stránecký, Viktor;
    • Ivánek, Robert;
    • Hartmannová, Hana;
    • Nosková, Lenka;
    • Piherová, Lenka;
    • Tesarová, Markéta;
    • Hansíková, Hana;
    • Honzík, Tomáš;
    • Zeman, Jirí;
    • Divina, Petr;
    • Potocká, Andrea;
    • Paul, Jan;
    • Sperl, Wolfgang;
    • Mayr, Johannes A.;
    • Seneca, Sara;
    • Houštěk, Josef;
    • Kmoch, Stanislav
    Publication type:
    Article
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    Severe depletion of mitochondrial DNA in spinal muscular atrophy.

    Published in:
    Acta Neuropathologica, 2003, v. 105, n. 3, p. 245, doi. 10.1007/s00401-002-0638-1
    By:
    • Berger, Alexandra;
    • Mayr, Johannes A.;
    • Meierhofer, David;
    • Fötschl, Ulrike;
    • Bittner, Reginald;
    • Budka, Herbert;
    • Grethen, Claude;
    • Huemer, Michael;
    • Kofler, Barbara;
    • Sperl, Wolfgang
    Publication type:
    Article
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    Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report.

    Published in:
    Clinical Case Reports, 2019, v. 7, n. 3, p. 553, doi. 10.1002/ccr3.2050
    By:
    • Hirono, Keiichi;
    • Ichida, Fukiko;
    • Nishio, Natsuhito;
    • Ogawa‐Tominaga, Minako;
    • Fushimi, Takuya;
    • Feichtinger, Rene′ G.;
    • Mayr, Johannes A.;
    • Kohda, Masakazu;
    • Kishita, Yoshihito;
    • Okazaki, Yasushi;
    • Ohtake, Akira;
    • Murayama, Kei
    Publication type:
    Article
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    Melanoma tumors exhibit a variable but distinct metabolic signature.

    Published in:
    Experimental Dermatology, 2018, v. 27, n. 2, p. 204, doi. 10.1111/exd.13465
    By:
    • Feichtinger, René G.;
    • Lang, Roland;
    • Geilberger, Reinhard;
    • Rathje, Florian;
    • Mayr, Johannes A.;
    • Sperl, Wolfgang;
    • Bauer, Johann W.;
    • Hauser‐Kronberger, Cornelia;
    • Kofler, Barbara;
    • Emberger, Michael
    Publication type:
    Article
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    The Mitochondrial T16189C Polymorphism Is Associated with Coronary Artery Disease in Middle European Populations.

    Published in:
    PLoS ONE, 2011, v. 6, n. 1, p. 1, doi. 10.1371/journal.pone.0016455
    By:
    • Mueller, Edith E.;
    • Eder, Waltraud;
    • Ebner, Sabine;
    • Schwaiger, Eva;
    • Santic, Danijela;
    • Kreindl, Tanja;
    • Stanger, Olaf;
    • Paulweber, Bernhard;
    • Iglseder, Bernhard;
    • Oberkofler, Hannes;
    • Maier, Richard;
    • Mayr, Johannes A.;
    • Krempler, Franz;
    • Weitgasser, Raimund;
    • Patsch, Wolfgang;
    • Sperl, Wolfgang;
    • Kofler, Barbara
    Publication type:
    Article
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    Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.

    Published in:
    Brain Communications, 2024, v. 6, n. 3, p. 1, doi. 10.1093/braincomms/fcae160
    By:
    • Manzoni, Eleonora;
    • Carli, Sara;
    • Gaignard, Pauline;
    • Schlieben, Lea Dewi;
    • Hirano, Michio;
    • Ronchi, Dario;
    • Gonzales, Emmanuel;
    • Shimura, Masaru;
    • Murayama, Kei;
    • Okazaki, Yasushi;
    • Barić, Ivo;
    • Ramadza, Danijela Petkovic;
    • Karall, Daniela;
    • Mayr, Johannes;
    • Martinelli, Diego;
    • Morgia, Chiara La;
    • Primiano, Guido;
    • Santer, René;
    • Servidei, Serenella;
    • Bris, Céline
    Publication type:
    Article
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    Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.

    Published in:
    Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00873-3
    By:
    • Yap, Zheng Yie;
    • Park, Yo Han;
    • Wortmann, Saskia B.;
    • Gunning, Adam C.;
    • Ezer, Shlomit;
    • Lee, Sukyeong;
    • Duraine, Lita;
    • Wilichowski, Ekkehard;
    • Wilson, Kate;
    • Mayr, Johannes A.;
    • Wagner, Matias;
    • Li, Hong;
    • Kini, Usha;
    • Black, Emily Davis;
    • Monaghan, Kristin G.;
    • Lupski, James R.;
    • Ellard, Sian;
    • Westphal, Dominik S.;
    • Harel, Tamar;
    • Yoon, Wan Hee
    Publication type:
    Article
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    De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2384, doi. 10.1002/ajmg.a.62254
    By:
    • Dias, Caroline;
    • Pfundt, Rolph;
    • Kleefstra, Tjitske;
    • Shuurs‐Hoeijmakers, Janneke;
    • Boon, Elles M. J.;
    • Hagen, Johanna M.;
    • Zwijnenburg, Petra;
    • Weiss, Marjan M.;
    • Keren, Boris;
    • Mignot, Cyril;
    • Isapof, Arnaud;
    • Weiss, Karin;
    • Hershkovitz, Tova;
    • Iascone, Maria;
    • Maitz, Silvia;
    • Feichtinger, René G.;
    • Kotzot, Dieter;
    • Mayr, Johannes A.;
    • Ben‐Omran, Tawfeg;
    • Mahmoud, Laila
    Publication type:
    Article
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